Dr Irene Roberts on Increased Risk of Leukemia in Patients With Down Syndrome

Patients with Down syndrome are at an increased risk for developing leukemia, but how much of an increased risk depends on age, explained Irene Roberts, MD, professor of pediatric hematology, MRC molecular hematology unit and pediatrics, MRC Weatherall Institute of Molecular Medicine.

How at risk are patients with Down syndrome for developing leukemia compared with the general population?
That very much depends on the age. So, for example, in a lifetime, say up to age 60, there’s about a 12-fold increased risk of acute myeloid leukemia compared to individuals without Down syndrome and a 13-fold increase of acute lymphoblastic leukemia. But if you’re a young child, the statistics are a lot different. So, the risk of a myeloid leukemia in children under 4, for example, climbs to 114-fold compared to other young children who don’t have Down syndrome.

What’s the reason behind this risk?
That’s a very good question, and we don’t fully know the answer, and a lot of people are researching on that. The assumption is that it has something to do with the extra chromosome in the blood cells. So, having an extra chromosome, 21, in some way, affects the behavior of the blood cell, which makes it more likely to transform. But which genes do it, we still don’t know.
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